Thalassaemia

doi:10.1016/S0140-6736(17)31822-6

Thalassaemia

2018-01-01

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Maria Domenica Cappellini

DOI：10.1016/S0140-6736(17)31822-6

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Inherited haemoglobin disorders, including thalassaemia and sickle-cell disease, are the most common monogenic diseases worldwide. Several clinical forms of alpha-thalassaemia and beta-thalassaemia, including the co-inheritance of beta-thalassaemia with haemoglobin E resulting in haemoglobin E/beta-thalassaemia, have been described. The disease hallmarks include imbalance in the alpha/beta-globin chain ratio, ineffective erythropoiesis, chronic haemolytic anaemia, compensatory haemopoietic expansion, hypercoagulability, and increased intestinal iron absorption. The complications of iron overload, arising from transfusions that represent the basis of disease management in most patients with severe thalassaemia, might further complicate the clinical phenotype. These pathophysiological mechanisms lead to an array of clinical manifestations involving numerous organ systems. Conventional management primarily relies on transfusion and iron-chelation therapy, as well as splenectomy in specific cases. An increased understanding of the molecular and pathogenic factors that govern the disease process have suggested routes for the development of new therapeutic approaches that address the underlying chain imbalance, ineffective erythropoiesis, and iron dysregulation, with several agents being evaluated in preclinical models and clinical trials.

Keywords:

TRANSFUSION-DEPENDENT THALASSEMIA

HEPATIC IRON CONCENTRATION

MAGNETIC-RESONANCE EVALUATION

RANDOMIZED CONTROLLED-TRIAL

MEDICALLY TREATED PATIENTS

ERYTHROID MARROW FUNCTION

SERUM FERRITIN LEVELS

QUALITY-OF-LIFE

BETA-THALASSEMIA

MYOCARDIAL IRON

Thalassaemia

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